SUFU Chromosome 10
SUFU negative regulator of hedgehog signaling
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What This Gene Does
The Hedgehog signaling pathway plays an important role in early human development. The pathway is a signaling cascade that plays a role in pattern formation and cellular proliferation during development. This gene encodes a negative regulator of the hedgehog signaling pathway. Defects in this gene are a cause of medulloblastoma. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
Associated Conditions (19)
Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome
Familial meningioma
Joubert syndrome 32
Basal cell nevus syndrome 2
SUFU-related disorder
Thyroid cancer
nonmedullary
1
Craniopharyngioma
Meningioma
Basal cell nevus syndrome 1
Microform holoprosencephaly
B Lymphoblastic Leukemia/Lymphoma
Not Otherwise Specified
Neurodevelopmental disorder
Congenital fibrosarcoma
Oculomotor apraxia
Key Variants
RS1040654062
Conflicting classifications of pathogenicity
Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome
Health Risk
RS1060501103
Conflicting classifications of pathogenicity
Gorlin syndrome, Medulloblastoma, Gorlin syndrome
Health Risk
RS1060501104
Conflicting classifications of pathogenicity
Medulloblastoma, Gorlin syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1060501117
Conflicting classifications of pathogenicity
Medulloblastoma, Gorlin syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1060504147
Conflicting classifications of pathogenicity
Medulloblastoma, Gorlin syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1171604398
Conflicting classifications of pathogenicity
Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome
Health Risk
RS1212706214
Conflicting classifications of pathogenicity
Medulloblastoma, Gorlin syndrome, Medulloblastoma
Health Risk
RS1244167364
Conflicting classifications of pathogenicity
Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome
Health Risk
RS1254002019
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Gorlin syndrome, Medulloblastoma
Health Risk
RS1265012285
Conflicting classifications of pathogenicity
Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome
Health Risk
RS1275187815
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Gorlin syndrome, Medulloblastoma
Health Risk
RS12780580
Conflicting classifications of pathogenicity
Medulloblastoma, Gorlin syndrome, Hereditary cancer-predisposing syndrome
Health Risk
All Variants (198)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1040654062 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS1060501103 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Gorlin syndrome |
| RS1060501104 | Health Risk | Conflicting classifications of pathogenicity | Medulloblastoma, Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501117 | Health Risk | Conflicting classifications of pathogenicity | Medulloblastoma, Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS1060504147 | Health Risk | Conflicting classifications of pathogenicity | Medulloblastoma, Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS1171604398 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS1212706214 | Health Risk | Conflicting classifications of pathogenicity | Medulloblastoma, Gorlin syndrome, Medulloblastoma |
| RS1244167364 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS1254002019 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Gorlin syndrome, Medulloblastoma |
| RS1265012285 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS1275187815 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Gorlin syndrome, Medulloblastoma |
| RS12780580 | Health Risk | Conflicting classifications of pathogenicity | Medulloblastoma, Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS1322807658 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial meningioma, Joubert syndrome 32 |
| RS1342217589 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS1345403982 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Gorlin syndrome, Medulloblastoma |
| RS137880855 | Health Risk | Conflicting classifications of pathogenicity | Medulloblastoma, Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS141359583 | Health Risk | Conflicting classifications of pathogenicity | Medulloblastoma, Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS141737156 | Health Risk | Conflicting classifications of pathogenicity | Medulloblastoma, Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS142672533 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS143807689 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS144158469 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Medulloblastoma, Gorlin syndrome |
| RS144666812 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS145082320 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Gorlin syndrome, Medulloblastoma |
| RS1456048322 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Basal cell nevus syndrome 2, Medulloblastoma |
| RS145704867 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS146181245 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS147404195 | Health Risk | Conflicting classifications of pathogenicity | Medulloblastoma, Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS1479527039 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS148160011 | Health Risk | Conflicting classifications of pathogenicity | Medulloblastoma, Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS149016373 | Health Risk | Conflicting classifications of pathogenicity | Medulloblastoma, Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS149449923 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS149513330 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Medulloblastoma, Gorlin syndrome |
| RS150569584 | Health Risk | Conflicting classifications of pathogenicity | Medulloblastoma, Hereditary cancer-predisposing syndrome, Gorlin syndrome |
| RS1554852773 | Health Risk | Conflicting classifications of pathogenicity | Medulloblastoma, Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS1564657077 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Gorlin syndrome, Medulloblastoma |
| RS1564711403 | Health Risk | Conflicting classifications of pathogenicity | Medulloblastoma, Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS1590062007 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Gorlin syndrome, Medulloblastoma |
| RS1590062961 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Gorlin syndrome, Medulloblastoma |
| RS1590082264 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS1590092132 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Gorlin syndrome, Medulloblastoma |
| RS193921097 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS202247757 | Health Risk | Conflicting classifications of pathogenicity | Medulloblastoma, Gorlin syndrome, SUFU-related disorder |
| RS2062288510 | Health Risk | Conflicting classifications of pathogenicity | Medulloblastoma, Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS2062290972 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS2063672832 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Gorlin syndrome |
| RS2135620366 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS2135743218 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2135882176 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS2545085136 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Gorlin syndrome |
| RS2545100258 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |